Severe disseminated primary herpes simplex infection as skin manifestation of <scp>GATA</scp>2 deficiency

Delgado-Márquez, Ana María; Zarco, C.; Ruiz, Rafael Morales; Simarro, Andrés Moya; Vanaclocha, F.

doi:10.1111/jdv.13183

Cited by 6 publications

(4 citation statements)

References 7 publications

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“…(14). He had suffered severe complications related to GATA2 deficiency: an extensive vesicular rash, later confirmed positive for HSV-2 by viral culture, that began on his left toe and spread to affect the entire surface of his left lower extremity, accompanied by a stable moderate lymphedema in his left leg.…”

Section: Resultsmentioning

confidence: 99%

“…In addition to anemia and neutropenia, immunophenotyping revealed B- and NK-cell lymphopenia with the absence of DCs (Table 1). GATA2 Sanger sequencing identified a novel heterozygous mutation (c.708delC) that disrupts the correct transcription of the protein leading to a premature stop codon at the amino acid 325 (p.M236Ifs325X) (14). He is currently awaiting HSCT in stable condition, receiving G-CSF twice a week and daily valacyclovir prophylaxis to minimize herpes simplex virus infection or infection recurrence.…”

Section: Resultsmentioning

confidence: 99%

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Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients

et al. 2017

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GATA binding protein 2 (GATA2) deficiency is a rare disorder of hematopoiesis, lymphatics, and immunity caused by spontaneous or autosomal dominant mutations in the GATA2 gene. Clinical manifestations range from neutropenia, lymphedema, deafness, to severe viral and mycobacterial infections, bone marrow failure, and acute myeloid leukemia. Patients also present with monocytopenia, dendritic cell, B- and natural killer (NK)-cell deficiency. We studied the T-cell and NK-cell compartments of four GATA2-deficient patients to assess if changes in these lymphocyte populations could be correlated with clinical phenotype. Patients with more severe clinical complications demonstrated a senescent T-cell phenotype whereas patients with lower clinical score had undetectable changes relative to controls. In contrast, patients’ NK-cells demonstrated an immature/activated phenotype that did not correlate with clinical score, suggesting an intrinsic NK-cell defect. These studies will help us to determine the contribution of T- and NK-cell dysregulation to the clinical phenotype of GATA2 patients, and may help to establish the most accurate therapeutic options for these patients. Asymptomatic patients may be taken into consideration for hematopoietic stem cell transplantation when dysregulation of T-cell and NK-cell compartment is present.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients

et al. 2017

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“…EBV associated spindle cell tumor and demyelinating sensorimotor polyradiculoneuropathy have been reported 58,59 . Severe disseminated herpes simplex infections are also important to watch for as they can lead to dire complications 60,61 . Overall, approximately 80% of patients will have infectious complications of their disease leading to significant morbidity and mortality.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Germline GATA2 Mutation and Bone Marrow Failure

McReynolds

Calvo

Holland

2018

Hematology/Oncology Clinics of North America

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GATA2 deficiency is an immunodeficiency and bone marrow failure disorder caused by pathogenic variants in GATA2. It is inherited in an autosomal-dominant pattern or can be due to de novo sporadic germline mutation. Patients commonly have B-cell, dendritic cell, natural killer cell, and monocytopenias, and are predisposed to myelodysplastic syndrome, acute myeloid leukemia, and chronic myelomonocytic leukemia. Patients may suffer from disseminated human papilloma virus and mycobacterial infections, pulmonary alveolar proteinosis, and lymphedema. The bone marrow eventually takes on a characteristic hypocellular myelodysplasia with loss of monocytes and hematogones, megakaryocytes with separated nuclear lobes, micromegakaryocytes, and megakaryocytes with hypolobated nuclei.

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“…IEIs with susceptibility to HSV infectionsNumerous inborn errors of immunity (IEIs) frequently manifest as severe or recurrent mucocutaneous lesions triggered by HSV. NK and/or T-cell defects are most often associated with mucosal HSV infections while some innate disorders are associated with herpes simplex encephalitis 197,[268][269][270][271]. …”

mentioning

confidence: 99%

Rubella virus chronic inflammatory disease and other unusual viral phenotypes in inborn errors of immunity

Kilich,

Perelygina,

Sullivan

2023

Immunological Reviews

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SummaryInfectious susceptibility is a component of many inborn errors of immunity. Nevertheless, antibiotic use is often used as a surrogate in history taking for infectious susceptibility, thereby disadvantaging patients who present with viral infections as their phenotype. Further complicating clinical evaluations are unusual manifestations of viral infections which may be less familiar that the typical respiratory viral infections. This review covers several unusual viral phenotypes arising in patients with inborn errors of immunity and other settings of immune compromise. In some cases, chronic infections lead to oncogenesis or tumor‐like growths and the conditions and mechanisms of viral‐induced oncogenesis will be described. This review covers enterovirus, rubella, measles, papillomavirus, and parvovirus B19. It does not cover EBV and hemophagocytic lymphohistiocytosis nor lymphomagenesis related to EBV. EBV susceptibility has been recently reviewed. Our goal is to increase awareness of the unusual manifestations of viral infections in patients with IEI and to describe treatment modalities utilized in this setting. Coincidentally, each of the discussed viral infections can have a cutaneous component and figures will serve as a reminder of the physical features of these viruses. Given the high morbidity and mortality, early recognition can only improve outcomes.

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Severe disseminated primary herpes simplex infection as skin manifestation of GATA2 deficiency

Cited by 6 publications

References 7 publications

Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients

Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients

Germline GATA2 Mutation and Bone Marrow Failure

Rubella virus chronic inflammatory disease and other unusual viral phenotypes in inborn errors of immunity

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